ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.105dup (p.Ser36fs)

dbSNP: rs1057516042
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV001089629 SCV001245106 pathogenic Holt-Oram syndrome; Left ventricular noncompaction cardiomyopathy 2018-02-09 criteria provided, single submitter research TBX5 Ser36Thrfs*25 has not been previously reported and is absent in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a patient with Holt-Oram Syndrome, the patient initially presented with findings of left ventricular non-compaction and also has brachydactyly and pectus deformity associated to the condition (Ross et al., 2018). TBX5 variants have only ever been associated to Holt-Oram syndrome furthermore, TBX5 loss of function variants are an established mechanism of disease and the variant is very rare in the general population, consequently we classify TBX5 Ser36Thrfs*25 as 'pathogenic'.

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